GATA2 gene analysis in several forms of hematological malignancies including familial aggregations View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2017-10

AUTHORS

Walid Sabri Hamadou, Rahma Mani, Sawsen Besbes, Violaine Bourdon, Yosra Ben Youssef, François Eisinger, Véronique Mari, Paul Gesta, Hélène Dreyfus, Valérie Bonadona, Catherine Dugast, Hélène Zattara, Laurence Faivre, Testsuro Noguchi, Abderrahim Khélif, Hagay Sobol, Zohra Soua

ABSTRACT

The genetic predisposition to familial hematological malignancies has been previously reported highlighting inherited gene mutations. Several genes have been reported but genetic basis remains not well defined. In this study, we extended our investigation to a potential candidate GATA2 gene which was analyzed by direct sequencing in 119 cases including familial aggregations with a variety of hematological malignancies and sporadic acute leukemia belonging to Tunisian and French populations. We reported a deleterious p.Arg396Gln GATA2 mutation in one patient diagnosed with both sporadic acute myeloid leukemia (AML) and breast cancer. We also reported several GATA2 variations in familial cases. The absence of deleterious mutations in this large cohort of familial aggregations of hematological malignancies may strengthen the hypothesis that GATA2 mutations are an important predisposing factor, although as a secondary genetic event, required for the development of overt malignant disease. More... »

PAGES

1635-1639

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/s00277-017-3076-9

DOI

http://dx.doi.org/10.1007/s00277-017-3076-9

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1090911456

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/28752392


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